ClinVar 임상 비교

AlphaMissense AI 예측 vs ClinVar 실제 임상 분류 — 일치/불일치 분석

전체 일치도 대시보드 ClinVar
ClinVar 변이 (서브셋)
319,822
우리 보유 유전자만
커버 유전자
308
병원성/가능 변이
56,770
AM과 교차 가능
154,518
단백질 변이 추출
유전자별 AM 예측 vs ClinVar 임상 분류 일치도

CFTR: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
154
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
22
⚠ CV=양성 / AM=병원성
0
— AM 미적재
324
AM ↔ ClinVar 비교 가능 변이 176건 중 154건 일치 / 22건 불일치 — 일치도 87.5%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1006E Pathogenic 0.796 pathogenic ✓ 해석 →
A1067P Likely pathogenic 0.982 pathogenic ✓ 해석 →
A1067T drug response 0.531 ambiguous 해석 →
A1067V Conflicting classifications of pathogeni 0.640 pathogenic 해석 →
A107G Likely pathogenic 0.325 benign ⚠ 해석 →
A1087P Likely pathogenic 0.992 pathogenic ✓ 해석 →
A1136T Conflicting classifications of pathogeni 0.408 ambiguous 해석 →
A120T Conflicting classifications of pathogeni 0.508 ambiguous 해석 →
A1364V Conflicting classifications of pathogeni 0.687 pathogenic 해석 →
A141D Conflicting classifications of pathogeni 0.961 pathogenic 해석 →
A155G Conflicting classifications of pathogeni 0.357 ambiguous 해석 →
A198P Conflicting classifications of pathogeni 0.931 pathogenic 해석 →
A223V Conflicting classifications of pathogeni 0.348 ambiguous 해석 →
A234D Conflicting classifications of pathogeni 0.942 pathogenic 해석 →
A309G Conflicting classifications of pathogeni 0.244 benign 해석 →
A349P Conflicting classifications of pathogeni 0.947 pathogenic 해석 →
A349V Uncertain significance 0.261 benign 해석 →
A455E Pathogenic 0.948 pathogenic ✓ 해석 →
A455V Conflicting classifications of pathogeni 0.192 benign 해석 →
A457P Conflicting classifications of pathogeni 0.961 pathogenic 해석 →
A46D Pathogenic 0.984 pathogenic ✓ 해석 →
A534E Uncertain significance 0.134 benign 해석 →
A559P Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
A559T Pathogenic 0.932 pathogenic ✓ 해석 →
A561E Pathogenic 0.985 pathogenic ✓ 해석 →
A561V Conflicting classifications of pathogeni 0.718 pathogenic 해석 →
A566D Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
A613T Pathogenic 0.393 ambiguous 해석 →
A62P Conflicting classifications of pathogeni 0.812 pathogenic 해석 →
A72D Likely pathogenic 0.986 pathogenic ✓ 해석 →
A872E Likely pathogenic 0.724 pathogenic ✓ 해석 →
A923D Likely pathogenic 0.982 pathogenic ✓ 해석 →
A9V Conflicting classifications of pathogeni 0.754 pathogenic 해석 →
C1344* Likely pathogenic — 미적재 해석 →
C1410* Pathogenic/Likely pathogenic — 미적재 해석 →
C225* Pathogenic — 미적재 해석 →
C276* Pathogenic — 미적재 해석 →
C276* Pathogenic — 미적재 해석 →
C491G Likely pathogenic 0.376 ambiguous 해석 →
C491R Pathogenic 0.963 pathogenic ✓ 해석 →
C524* Pathogenic — 미적재 해석 →
C524R Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
C524Y Conflicting classifications of pathogeni 0.987 pathogenic 해석 →
C590S Likely pathogenic 0.599 pathogenic ✓ 해석 →
C647* Pathogenic — 미적재 해석 →
C832* Pathogenic — 미적재 해석 →
D110E drug response 0.720 pathogenic 해석 →
D110E Pathogenic 0.720 pathogenic ✓ 해석 →
D110H Pathogenic; drug response 0.636 pathogenic ✓ 해석 →
D110N Likely pathogenic 0.357 ambiguous 해석 →
D110V Conflicting classifications of pathogeni 0.695 pathogenic 해석 →
D110Y Conflicting classifications of pathogeni 0.615 pathogenic 해석 →
D1152H drug response 0.860 pathogenic 해석 →
D1154G Conflicting classifications of pathogeni 0.898 pathogenic 해석 →
D1270N Conflicting classifications of pathogeni 0.503 ambiguous 해석 →
D1270V Likely pathogenic 0.945 pathogenic ✓ 해석 →
D1377H Conflicting classifications of pathogeni 0.883 pathogenic 해석 →
D192G Pathogenic 0.892 pathogenic ✓ 해석 →
D192V Conflicting classifications of pathogeni 0.957 pathogenic 해석 →
D192Y Likely pathogenic 0.951 pathogenic ✓ 해석 →
D373N Uncertain significance 0.115 benign 해석 →
D443Y Conflicting classifications of pathogeni 0.160 benign 해석 →
D44G Pathogenic 0.528 ambiguous 해석 →
D513G Pathogenic 0.875 pathogenic ✓ 해석 →
D529G Conflicting classifications of pathogeni 0.716 pathogenic 해석 →
D537N Conflicting classifications of pathogeni 0.525 ambiguous 해석 →
D565G Conflicting classifications of pathogeni 0.714 pathogenic 해석 →
D567A Conflicting classifications of pathogeni 0.890 pathogenic 해석 →
D572N Likely pathogenic 0.934 pathogenic ✓ 해석 →
D579G drug response 0.971 pathogenic 해석 →
D579H Likely pathogenic 0.981 pathogenic ✓ 해석 →
D58N Likely pathogenic 0.470 ambiguous 해석 →
D614G Pathogenic/Likely pathogenic 0.415 ambiguous 해석 →
D648V Pathogenic 0.181 benign ⚠ 해석 →
D806G Conflicting classifications of pathogeni 0.341 ambiguous 해석 →
D835* Pathogenic — 미적재 해석 →
D836Y Conflicting classifications of pathogeni 0.167 benign 해석 →
D924N Uncertain significance 0.834 pathogenic 해석 →
D979A Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
D979V Pathogenic 0.989 pathogenic ✓ 해석 →
D993G Conflicting classifications of pathogeni 0.950 pathogenic 해석 →
D993Y Conflicting classifications of pathogeni 0.934 pathogenic 해석 →
E1044G Conflicting classifications of pathogeni 0.888 pathogenic 해석 →
E1046* Pathogenic — 미적재 해석 →
E1075* Likely pathogenic — 미적재 해석 →
E1104* Pathogenic — 미적재 해석 →
E1104K Likely pathogenic 0.936 pathogenic ✓ 해석 →
E1104V Likely pathogenic 0.961 pathogenic ✓ 해석 →
E116K Pathogenic 0.845 pathogenic ✓ 해석 →
E116Q Conflicting classifications of pathogeni 0.658 pathogenic 해석 →
E1228* Likely pathogenic — 미적재 해석 →
E1266* Pathogenic/Likely pathogenic — 미적재 해석 →
E1308* Likely pathogenic — 미적재 해석 →
E1314* Pathogenic — 미적재 해석 →
E1371* Pathogenic — 미적재 해석 →
E1401* Pathogenic/Likely pathogenic — 미적재 해석 →
E1409* Pathogenic — 미적재 해석 →
E1409K Conflicting classifications of pathogeni 0.511 ambiguous 해석 →
E1418* Pathogenic — 미적재 해석 →
E1433* Pathogenic/Likely pathogenic — 미적재 해석 →
E1470* Pathogenic/Likely pathogenic — 미적재 해석 →
E1473* Pathogenic/Likely pathogenic — 미적재 해석 →
E193* Pathogenic — 미적재 해석 →
E193K Pathogenic; drug response 0.684 pathogenic ✓ 해석 →
E217G Conflicting classifications of pathogeni 0.233 benign 해석 →
E257* Pathogenic — 미적재 해석 →
E279* Likely pathogenic — 미적재 해석 →
E282* Pathogenic/Likely pathogenic — 미적재 해석 →
E292* Pathogenic/Likely pathogenic — 미적재 해석 →
E33* Likely pathogenic — 미적재 해석 →
E379* Pathogenic — 미적재 해석 →
E384* Likely pathogenic — 미적재 해석 →
E402* Pathogenic/Likely pathogenic — 미적재 해석 →
E403D Pathogenic 0.200 benign ⚠ 해석 →
E403D Likely pathogenic 0.200 benign ⚠ 해석 →
E407* Pathogenic/Likely pathogenic — 미적재 해석 →
E449* Pathogenic — 미적재 해석 →
E449* Pathogenic — 미적재 해석 →
E474* Pathogenic/Likely pathogenic — 미적재 해석 →
E474K Pathogenic 0.931 pathogenic ✓ 해석 →
E476D Likely pathogenic 0.272 benign ⚠ 해석 →
E479* Pathogenic — 미적재 해석 →
E479Q Likely pathogenic 0.098 benign ⚠ 해석 →
E504* Pathogenic — 미적재 해석 →
E514* Pathogenic/Likely pathogenic — 미적재 해석 →
E514G Uncertain significance 0.208 benign 해석 →
E527* Likely pathogenic — 미적재 해석 →
E527G Conflicting classifications of pathogeni 0.197 benign 해석 →
E56* Pathogenic — 미적재 해석 →
E56K Pathogenic; drug response 0.880 pathogenic ✓ 해석 →
E585* Pathogenic — 미적재 해석 →
E588* Pathogenic — 미적재 해석 →
E588V Conflicting classifications of pathogeni 0.342 ambiguous 해석 →
E60* Pathogenic — 미적재 해석 →
E60G Likely pathogenic 0.908 pathogenic ✓ 해석 →
E60K Pathogenic 0.960 pathogenic ✓ 해석 →
E621* Likely pathogenic — 미적재 해석 →
E656* Pathogenic — 미적재 해석 →
E664* Pathogenic — 미적재 해석 →
E681* Likely pathogenic — 미적재 해석 →
E7* Pathogenic — 미적재 해석 →
E725K Conflicting classifications of pathogeni 0.091 benign 해석 →
E726R Pathogenic 0.138 benign ⚠ 해석 →
E730* Pathogenic — 미적재 해석 →
E746* Likely pathogenic — 미적재 해석 →
E804* Likely pathogenic — 미적재 해석 →
E815* Pathogenic — 미적재 해석 →
E819* Likely pathogenic — 미적재 해석 →
E822* Pathogenic — 미적재 해석 →
E822K Likely pathogenic 0.122 benign ⚠ 해석 →
E823* Pathogenic/Likely pathogenic — 미적재 해석 →
E826* Pathogenic — 미적재 해석 →
E827* Pathogenic — 미적재 해석 →
E831* Pathogenic — 미적재 해석 →
E873* Likely pathogenic — 미적재 해석 →
E92* Pathogenic — 미적재 해석 →
E92D Conflicting classifications of pathogeni 0.875 pathogenic 해석 →
E92K Pathogenic 0.944 pathogenic ✓ 해석 →
F1016S Conflicting classifications of pathogeni 0.512 ambiguous 해석 →
F1052V drug response 0.779 pathogenic 해석 →
F1074L drug response 0.970 pathogenic 해석 →
F1074L Pathogenic/Likely pathogenic 0.970 pathogenic ✓ 해석 →
F1078S Likely pathogenic 0.970 pathogenic ✓ 해석 →
F1099L Conflicting classifications of pathogeni 0.979 pathogenic 해석 →
F1107L Conflicting classifications of pathogeni 0.984 pathogenic 해석 →
F1286S Uncertain significance 0.944 pathogenic 해석 →
F191V Pathogenic 0.593 pathogenic ✓ 해석 →
F200I Conflicting classifications of pathogeni 0.827 pathogenic 해석 →
F311L Pathogenic 0.975 pathogenic ✓ 해석 →
F311L Likely pathogenic 0.975 pathogenic ✓ 해석 →
F311L Pathogenic 0.975 pathogenic ✓ 해석 →
F490V Likely pathogenic 0.601 pathogenic ✓ 해석 →
F508C Conflicting classifications of pathogeni 0.874 pathogenic 해석 →
F575Y Conflicting classifications of pathogeni 0.771 pathogenic 해석 →
F587I Conflicting classifications of pathogeni 0.833 pathogenic 해석 →
F587S Likely pathogenic 0.936 pathogenic ✓ 해석 →
G103* Pathogenic — 미적재 해석 →
G1061* Likely pathogenic — 미적재 해석 →
G1061R Pathogenic/Likely pathogenic 0.991 pathogenic ✓ 해석 →
G1061R Pathogenic 0.991 pathogenic ✓ 해석 →
G1069R Likely pathogenic 0.312 benign ⚠ 해석 →
G1069R Conflicting classifications of pathogeni 0.312 benign 해석 →
G1123R Likely pathogenic 0.272 benign ⚠ 해석 →
G1125* Likely pathogenic — 미적재 해석 →
G1208D Conflicting classifications of pathogeni 0.962 pathogenic 해석 →
G1244E Pathogenic; drug response 0.989 pathogenic ✓ 해석 →
G1244R Pathogenic 0.991 pathogenic ✓ 해석 →
G1244V Likely pathogenic 0.984 pathogenic ✓ 해석 →
G1247* Pathogenic — 미적재 해석 →
G1247R Likely pathogenic 0.953 pathogenic ✓ 해석 →
G1247R Likely pathogenic 0.953 pathogenic ✓ 해석 →
G1249E Conflicting classifications of pathogeni 0.988 pathogenic 해석 →
G1249R Pathogenic 0.953 pathogenic ✓ 해석 →
G1249R Pathogenic 0.953 pathogenic ✓ 해석 →
G124R Likely pathogenic 0.980 pathogenic ✓ 해석 →
G1265* Likely pathogenic — 미적재 해석 →
G1265E Conflicting classifications of pathogeni 0.948 pathogenic 해석 →
G1265R Conflicting classifications of pathogeni 0.965 pathogenic 해석 →
G126D Pathogenic 0.977 pathogenic ✓ 해석 →
G126S Conflicting classifications of pathogeni 0.375 ambiguous 해석 →

AM 임계: 병원성 ≥ 0.564, 양성 < 0.34 (AlphaMissense 권장 컷오프, Cheng et al. Science 2023)

📚 데이터: NCBI ClinVar variant_summary (GRCh38, 최근 다운로드) + 우리 유전자 서브셋만 추출.